MOUNTAIN VIEW, Calif., Dec. 20, 2012 /PRNewswire/ -- 23andMe has released its third annual list of the ten most interesting and significant genetic findings in 2012 as part of the company's ongoing efforts to understand the role of genetics in personal health and human development.

"It's a very exciting time in the world of genetics. Technology improvements and big datasets are making incredible advancements possible," said Anne Wojcicki, co-founder and CEO of 23andMe. "Our own researchers at 23andMe continue to contribute important findings, from understanding the importance of genetics used in conjunction with family health history to assess personal health, to identifying new genetic associations for blood disorders called myeloproliferative neoplasms."

REFLECTING ON 2012The Top Ten Genetic Findings of 2012 were selected by the researchers of 23andMe drawn from research presented throughout the year on the 23andMe Blog and research published in peer-reviewed journals.

"We often find unexpected genetic associations derived from 23andMe's own crowd-sourced research," said Shirley Wu, Ph.D., 23andMe science content manager who oversaw the selection process. "By answering simple online surveys, our community has provided more than 70 million phenotypic data points in addition to their genetic information for research. With nearly 90 percent of our more than 180,000 customers participating in our research, we have a powerful data set that enables us to make important discoveries."

1. A Genetic Variant Protective Against Alzheimer's Disease

A very rare variant was found to be associated with about five times lower odds of Alzheimer's. While this rare variant (the T version of rs63750847 also known as the A673T variant in the APP gene) is only found in about one in 10,000 people of European descent, the research adds more insight into the development of the disease. Many mutations in the APP gene actually cause Alzheimer's through an overproduction of beta amyloid protein in the brain (a hallmark of Alzheimer's), but the protective variant appears to do the opposite, according to the study. New drugs built on this finding could help protect against Alzheimer's, or even the mental ravages of normal aging. 23andMe does offer customers reports on their own Alzheimer's risk based on the more common APOE variant, as well as a report on this protective APP variant.

2. ENCODEProject Creates an Map of the Uncharted Areas of the Genome

Much of the work in genetics has been focused on the areas in our DNA that code for proteins, but this is a very small part just one percent of our genome. The ENCODEproject, which has enlisted more than 400 scientists over several years, is attempting to map the rest of it, the so called "darkmatter" ofthegenome. What they've created is the foundation for a sort of encyclopedia of the functions of many of these uncharted areas of the genome. It's a resource with incredible potential that will be used by many scientists in the years to come.

3. Noninvasive Prenatal Sequencing

Two separate research groups reported within weeks of each other that they had successfullysequencedahumanfetus using non-invasive methods.The breakthrough offers an opportunity for earlier prenatal screening than currently offered with amniocentesis or chorionic villous sampling (CVS) without the same risks for potentially harming a developing fetus.

4. New Insights into Group of Rare Blood Disorders Known as MPNs

In less than a year, 23andMe recruited a 1,000-person cohort with a group of rare blood disorders known as myeloproliferativeneoplasms, or MPNs. Within months of reaching that goal we began reporting out newfindings. Among them were replications of known genetic associations with the disease as well as new ones including an association between these conditions and variants in the TERT and ATM genes.

5. New Insights into the Human Origins and Evolution

Several different studies highlight ongoing research on our early ancestors and the evolution of modern humans. Beyond the compelling tale of our early ancestors, the journey out of Africa and the intermixingwithNeanderthalsandDenisovans, the new research also gives us insight into the significanceofraregeneticvariants which are vastly more numerous than common variants and tend to have stronger influence on disease risk.

6. Family Medical History and Genetics Best Used Together to Predict Disease

23andMe developedamodel demonstrating that both family history and genetic tests have strengths in predicting disease risks, but together they provide the best predictor for disease.

7. Older Dads' Biological Clocks

For a long time prospective fathers could while away the years without much worry about when to have kids, while prospective moms were constantly checking their ticking biological clocks. Astudy may turn the tables a bit, pushing men to think a little more about how long they wait to start a family. The study says that as men grow older the number of de novo mutations they passontotheirchildrenincreases, and preliminary studies suggest that the more de novo mutations passed onto a child the higher the risk that child could develop certain types of conditions, such as autism and schizophrenia. That said, becoming a dad can actually be good for you. There's evidence linking fatherhoodtohealthierhearts.

Early in 2012 the FDA approved ivacaftor (Kalydeco®) as a new treatment for cystic fibrosis, one of the most common recessively-inherited diseases. The drug developedbyVertexPharmaceuticalsInc. is the first treatment that targets one of the underlying causes of cystic fibrosis a specific genetic mutation rather than its symptoms.

It may be strange to point to a study that finds no genetic associations, but sometimes an absence of evidence can hint toward new routes of study. Cases of autism spectrum disorder (ASD), which runs the gamut from the relatively mild Asperger syndrome with mild social impairments to full-fledged autism characterized by repetitive behaviors and severe communication and social-interaction difficulties, had become increasingly common in the U.S. Why that is, is not so easy to discern. The lack of an association doesn't mean that genetics isn't important. In fact twin studies suggest that autism is at least moderately heritable, but it may be that genetic variations play a smaller role than rare mutations or copy number variation in the risk of a person developing autism. According to Autism Speaks Senior Vice President, Scientific Affairs Andy Shih, Ph.D., currently available clinical applications, including karyotype and microarrays allow the detection of genetic aberrations in about 20 percent of the cases of ASD.

23andMe provides updates on genetic research on a regular basis throughout the year in its SNPwatch series and on the 23andMe Blog. SNPwatch is not intended to be a substitute for professional medical advice and individuals should always seek the advice of their physician or other appropriate healthcare professional with any questions regarding diagnosis, cure, treatment or prevention of any medical condition.

About 23andMe23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service® enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at www.23andme.com.